Dync2h1 - SNV Details

 Human Rare Diseases 
Jeune syndrome
Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Majewski type

 Gene Information 
Gene Name Dync2h1
Old Gene Names for Dync2h1 Ai448217 , Dnchc2 , 4432416o06rik , D030010h02rik , D330044f14rik
Gene Description dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]
MGI phenotype Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.
Uniprot Name
Gene GO
axoneme; ATPase activity; positive regulation of smoothened signaling pathway; microtubule-based movement; dorsal/ventral pattern formation; Golgi organization; microtubule; motile primary cilium; microtubule motor activity; intraciliary retrograde transport; protein processing; cilium assembly; nucleoside-triphosphatase activity; cilium morphogenesis; extracellular vesicular exosome; embryonic limb morphogenesis; apical part of cell; determination of left/right symmetry; nucleotide binding; ATP binding; neuron differentiation; forebrain development; plasma membrane; dynein complex; asymmetric protein localization; ATP catabolic process; Golgi apparatus; spinal cord motor neuron differentiation
Homolog in other species DYNC2H1
Omim http://omim.org/entry/603297
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047193
Chromosome 9
Coordinate 7,076,235     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 15
Allele Frequency
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL03224
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

Polyphen Score 0.05
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved